Incidental Mutation 'R2041:Akap12'
ID 224944
Institutional Source Beutler Lab
Gene Symbol Akap12
Ensembl Gene ENSMUSG00000038587
Gene Name A kinase anchor protein 12
Synonyms Tsga12, Srcs5, SSeCKS
MMRRC Submission 040048-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R2041 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 4216380-4309470 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4306489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1100 (P1100S)
Ref Sequence ENSEMBL: ENSMUSP00000150261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045730] [ENSMUST00000215696]
AlphaFold Q9WTQ5
Predicted Effect probably benign
Transcript: ENSMUST00000045730
AA Change: P1205S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: P1205S

DomainStartEndE-ValueType
low complexity region 30 48 N/A INTRINSIC
low complexity region 120 132 N/A INTRINSIC
low complexity region 151 171 N/A INTRINSIC
low complexity region 187 198 N/A INTRINSIC
internal_repeat_1 212 279 3.2e-5 PROSPERO
coiled coil region 304 331 N/A INTRINSIC
low complexity region 387 398 N/A INTRINSIC
low complexity region 407 424 N/A INTRINSIC
low complexity region 432 446 N/A INTRINSIC
low complexity region 497 526 N/A INTRINSIC
low complexity region 550 561 N/A INTRINSIC
low complexity region 571 582 N/A INTRINSIC
Pfam:WSK 591 619 2e-15 PFAM
low complexity region 626 637 N/A INTRINSIC
low complexity region 673 684 N/A INTRINSIC
low complexity region 700 711 N/A INTRINSIC
Pfam:WSK 738 766 2.3e-15 PFAM
Pfam:WSK 779 807 6.2e-11 PFAM
low complexity region 951 973 N/A INTRINSIC
low complexity region 1050 1065 N/A INTRINSIC
low complexity region 1177 1187 N/A INTRINSIC
internal_repeat_1 1197 1265 3.2e-5 PROSPERO
low complexity region 1303 1312 N/A INTRINSIC
Pfam:RII_binding_1 1501 1518 4.2e-7 PFAM
coiled coil region 1651 1676 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215696
AA Change: P1100S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216139
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele disrupting all three common isoforms suffer from prostatic hyperplasia and focal dysplasia, and from delayed fertility. Mice homozygous for a gene trap allele exhibit enhanced cardiac function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 144,982,211 (GRCm39) D265E probably damaging Het
2610021A01Rik A G 7: 41,275,403 (GRCm39) R369G possibly damaging Het
Actr3b T C 5: 25,965,128 (GRCm39) probably null Het
Adamts12 A T 15: 11,215,821 (GRCm39) M281L probably damaging Het
Aipl1 T A 11: 71,922,332 (GRCm39) M126L possibly damaging Het
Alox8 T A 11: 69,088,517 (GRCm39) H40L possibly damaging Het
Anks1 T A 17: 28,227,388 (GRCm39) F659L probably damaging Het
Asxl3 G T 18: 22,656,508 (GRCm39) R1506L probably benign Het
Bicd2 A G 13: 49,495,252 (GRCm39) T36A probably benign Het
Ccar1 A T 10: 62,601,827 (GRCm39) L448Q probably damaging Het
Ccdc17 T G 4: 116,456,789 (GRCm39) N497K probably damaging Het
Chek2 T C 5: 110,996,530 (GRCm39) I164T probably damaging Het
Cntnap5c T C 17: 58,411,765 (GRCm39) probably null Het
Cntnap5c T A 17: 58,505,984 (GRCm39) D669E probably benign Het
Cpsf6 A G 10: 117,195,033 (GRCm39) I482T probably damaging Het
Csf3 C T 11: 98,592,483 (GRCm39) S65L possibly damaging Het
Dlc1 A G 8: 37,049,922 (GRCm39) Y1049H probably damaging Het
Dnah6 T C 6: 73,050,422 (GRCm39) D3048G probably damaging Het
Eif4g3 T A 4: 137,832,617 (GRCm39) probably benign Het
Epb41l4b T C 4: 57,084,070 (GRCm39) K195R probably damaging Het
Epn1 T C 7: 5,086,874 (GRCm39) S41P probably damaging Het
Fam120a C A 13: 49,051,243 (GRCm39) V721L probably benign Het
Fchsd1 T A 18: 38,100,729 (GRCm39) probably null Het
Fer1l6 G A 15: 58,430,155 (GRCm39) G194D probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fyb1 A C 15: 6,674,268 (GRCm39) T635P possibly damaging Het
Gpr153 A G 4: 152,367,810 (GRCm39) S554G probably benign Het
Grm1 A G 10: 10,622,347 (GRCm39) F459L probably damaging Het
H60c C T 10: 3,209,972 (GRCm39) G105D probably damaging Het
Ifnlr1 T A 4: 135,433,148 (GRCm39) M528K possibly damaging Het
Lama4 A T 10: 38,945,987 (GRCm39) D790V probably damaging Het
Mfsd13b T C 7: 120,591,139 (GRCm39) probably benign Het
Mis12 T A 11: 70,916,132 (GRCm39) I55N probably damaging Het
Morn1 T C 4: 155,175,399 (GRCm39) Y103H probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Ndst3 C A 3: 123,465,864 (GRCm39) G36V probably benign Het
Nlrp4a T A 7: 26,149,611 (GRCm39) M406K probably damaging Het
Or4p18 T C 2: 88,232,568 (GRCm39) T237A probably damaging Het
Or51t4 T A 7: 102,598,170 (GRCm39) V156E probably damaging Het
Or5b106 A T 19: 13,124,041 (GRCm39) probably benign Het
Or7g32 A T 9: 19,408,131 (GRCm39) D29V probably benign Het
Or9m1 T C 2: 87,733,141 (GRCm39) N293S probably damaging Het
Pars2 A G 4: 106,510,814 (GRCm39) T199A probably damaging Het
Plcb4 C T 2: 135,780,191 (GRCm39) T172I probably damaging Het
Pomgnt2 A T 9: 121,811,354 (GRCm39) W476R probably benign Het
Psg23 T A 7: 18,348,703 (GRCm39) S35C possibly damaging Het
Pycr3 T A 15: 75,791,144 (GRCm39) probably null Het
Rab3gap1 T C 1: 127,865,727 (GRCm39) V764A possibly damaging Het
Rgs2 A G 1: 143,877,960 (GRCm39) F80S probably damaging Het
Sall1 A G 8: 89,759,429 (GRCm39) L225P probably benign Het
Setd3 A G 12: 108,079,651 (GRCm39) I284T possibly damaging Het
Slc4a9 C T 18: 36,663,846 (GRCm39) T290I possibly damaging Het
Tmem87b T C 2: 128,673,509 (GRCm39) V251A probably damaging Het
Ube3b T C 5: 114,525,294 (GRCm39) L39P probably damaging Het
Ubr2 C A 17: 47,296,973 (GRCm39) R269L probably damaging Het
Vrk2 A T 11: 26,497,914 (GRCm39) I90K probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp984 A T 4: 147,839,796 (GRCm39) C352S probably damaging Het
Other mutations in Akap12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00712:Akap12 APN 10 4,357,164 (GRCm38) missense probably benign 0.09
IGL01306:Akap12 APN 10 4,303,273 (GRCm39) missense probably benign 0.04
IGL01360:Akap12 APN 10 4,307,537 (GRCm39) missense probably benign 0.02
IGL01455:Akap12 APN 10 4,306,886 (GRCm39) missense probably damaging 0.99
IGL01458:Akap12 APN 10 4,304,060 (GRCm39) missense probably damaging 1.00
IGL01465:Akap12 APN 10 4,306,886 (GRCm39) missense probably damaging 0.99
IGL02348:Akap12 APN 10 4,304,722 (GRCm39) missense probably damaging 1.00
IGL02425:Akap12 APN 10 4,306,034 (GRCm39) missense possibly damaging 0.67
IGL02502:Akap12 APN 10 4,303,163 (GRCm39) missense probably damaging 1.00
IGL02736:Akap12 APN 10 4,305,637 (GRCm39) missense probably benign
IGL02969:Akap12 APN 10 4,304,864 (GRCm39) missense probably damaging 1.00
IGL03345:Akap12 APN 10 4,306,697 (GRCm39) missense probably benign 0.42
ANU23:Akap12 UTSW 10 4,303,273 (GRCm39) missense probably benign 0.04
FR4976:Akap12 UTSW 10 4,303,837 (GRCm39) small insertion probably benign
R0004:Akap12 UTSW 10 4,303,220 (GRCm39) missense probably damaging 1.00
R0004:Akap12 UTSW 10 4,303,218 (GRCm39) missense possibly damaging 0.56
R0207:Akap12 UTSW 10 4,303,333 (GRCm39) missense probably damaging 1.00
R0580:Akap12 UTSW 10 4,304,741 (GRCm39) missense possibly damaging 0.91
R0675:Akap12 UTSW 10 4,303,315 (GRCm39) missense probably benign 0.06
R1248:Akap12 UTSW 10 4,303,847 (GRCm39) missense probably benign 0.11
R1338:Akap12 UTSW 10 4,263,773 (GRCm39) missense possibly damaging 0.95
R1448:Akap12 UTSW 10 4,305,475 (GRCm39) missense probably benign 0.22
R1458:Akap12 UTSW 10 4,303,693 (GRCm39) missense probably damaging 1.00
R1521:Akap12 UTSW 10 4,304,804 (GRCm39) missense probably benign 0.02
R1585:Akap12 UTSW 10 4,303,640 (GRCm39) missense probably benign 0.11
R1725:Akap12 UTSW 10 4,303,942 (GRCm39) missense probably damaging 1.00
R1756:Akap12 UTSW 10 4,307,574 (GRCm39) missense probably benign 0.04
R1914:Akap12 UTSW 10 4,306,685 (GRCm39) missense probably benign 0.01
R1978:Akap12 UTSW 10 4,263,855 (GRCm39) missense probably benign 0.06
R2032:Akap12 UTSW 10 4,306,673 (GRCm39) missense possibly damaging 0.50
R3009:Akap12 UTSW 10 4,307,891 (GRCm39) missense probably benign 0.06
R3872:Akap12 UTSW 10 4,307,590 (GRCm39) missense probably benign 0.00
R3874:Akap12 UTSW 10 4,307,590 (GRCm39) missense probably benign 0.00
R3875:Akap12 UTSW 10 4,307,590 (GRCm39) missense probably benign 0.00
R3944:Akap12 UTSW 10 4,307,347 (GRCm39) missense probably benign 0.00
R4612:Akap12 UTSW 10 4,304,456 (GRCm39) missense probably damaging 1.00
R4889:Akap12 UTSW 10 4,306,535 (GRCm39) missense probably damaging 0.97
R5043:Akap12 UTSW 10 4,305,047 (GRCm39) missense probably damaging 1.00
R5176:Akap12 UTSW 10 4,303,947 (GRCm39) missense probably benign 0.19
R5278:Akap12 UTSW 10 4,304,792 (GRCm39) missense probably benign 0.02
R5320:Akap12 UTSW 10 4,307,291 (GRCm39) missense probably benign 0.00
R5443:Akap12 UTSW 10 4,305,576 (GRCm39) missense probably damaging 1.00
R5533:Akap12 UTSW 10 4,307,405 (GRCm39) missense probably damaging 1.00
R6133:Akap12 UTSW 10 4,305,178 (GRCm39) missense probably benign 0.05
R6142:Akap12 UTSW 10 4,263,740 (GRCm39) splice site probably null
R6190:Akap12 UTSW 10 4,306,268 (GRCm39) missense possibly damaging 0.92
R6458:Akap12 UTSW 10 4,305,148 (GRCm39) missense probably damaging 1.00
R6562:Akap12 UTSW 10 4,306,141 (GRCm39) nonsense probably null
R6701:Akap12 UTSW 10 4,305,243 (GRCm39) missense probably damaging 1.00
R6828:Akap12 UTSW 10 4,304,606 (GRCm39) missense probably damaging 0.96
R6991:Akap12 UTSW 10 4,307,122 (GRCm39) nonsense probably null
R7023:Akap12 UTSW 10 4,306,895 (GRCm39) missense probably benign 0.05
R7102:Akap12 UTSW 10 4,303,226 (GRCm39) missense probably damaging 1.00
R7483:Akap12 UTSW 10 4,303,967 (GRCm39) missense probably benign 0.00
R7538:Akap12 UTSW 10 4,303,213 (GRCm39) missense probably damaging 1.00
R7664:Akap12 UTSW 10 4,303,748 (GRCm39) missense probably damaging 1.00
R7704:Akap12 UTSW 10 4,306,082 (GRCm39) missense probably damaging 1.00
R8447:Akap12 UTSW 10 4,306,289 (GRCm39) missense probably benign 0.32
R8502:Akap12 UTSW 10 4,263,856 (GRCm39) missense probably benign 0.22
R8910:Akap12 UTSW 10 4,263,822 (GRCm39) missense probably benign
R8946:Akap12 UTSW 10 4,304,368 (GRCm39) missense probably damaging 1.00
R9003:Akap12 UTSW 10 4,306,744 (GRCm39) missense probably benign 0.32
R9237:Akap12 UTSW 10 4,307,231 (GRCm39) missense probably benign
R9347:Akap12 UTSW 10 4,303,640 (GRCm39) missense probably benign 0.11
R9428:Akap12 UTSW 10 4,303,409 (GRCm39) missense probably damaging 1.00
R9734:Akap12 UTSW 10 4,305,929 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGGAAGTACTCCCCTCGC -3'
(R):5'- CACTGTCACGTGTCAAGTCAG -3'

Sequencing Primer
(F):5'- GGAAGTACTCCCCTCGCAGATTC -3'
(R):5'- TCACGTGTCAAGTCAGCAGTC -3'
Posted On 2014-08-25